..These findings suggest a severe, recessively inherited form of CRYAB-related myofibrillar myopathy. Profound muscle stiffness as the main presenting feature indicates αB-crystallin as a potent modifier of muscle contractility...

Lower motor neuron involvement in perisylvian polymicrogyria

Maria ClarkNeurosciences Unit, University College London Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, UKDev Med Child Neurol 48:842-6. 2006

..Possible pathogenic mechanisms are discussed but this association of upper and lower motor neuron involvement is likely to be a previously unsuspected part of a genetic or other pathogenic sequence...